Characterisation of the <i>SMN1/2</i> locus using a highly specific variant caller on whole-genome sequence data from 500,000 individuals

European Journal of Human Genetics, Published online: 02 July 2026; doi:10.1038/s41431-026-02175-x

Characterisation of the SMN1/2 locus using a highly specific variant caller on whole-genome sequence data from 500,000 individuals